Variant report

Variant	rs12886419
Chromosome Location	chr14:31425437-31425438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31425052..31427072-chr14:31430189..31431943,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10047928	0.85[EUR][1000 genomes]
rs10140248	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142411	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11156654	1.00[CEU][hapmap];0.95[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624128	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624837	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12881165	1.00[ASN][1000 genomes]
rs12881677	1.00[ASN][1000 genomes]
rs12883240	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885160	1.00[ASN][1000 genomes]
rs12886365	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889381	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892791	1.00[ASN][1000 genomes]
rs12894032	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895940	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896432	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes]
rs12897108	0.81[EUR][1000 genomes]
rs12897351	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898167	1.00[ASN][1000 genomes]
rs28572507	0.82[EUR][1000 genomes]
rs34284209	0.83[EUR][1000 genomes]
rs34399663	1.00[ASN][1000 genomes]
rs34869270	1.00[ASN][1000 genomes]
rs35140421	0.95[CEU][hapmap];0.86[GIH][hapmap]
rs35941434	1.00[ASN][1000 genomes]
rs61976839	1.00[ASN][1000 genomes]
rs61976841	1.00[ASN][1000 genomes]
rs6571381	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67489064	1.00[ASN][1000 genomes]
rs7141291	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427204	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7143908	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145438	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7146946	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7151175	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153028	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs7153403	0.94[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.83[EUR][1000 genomes]
rs7154605	0.95[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8015705	1.00[CEU][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv564177	chr14:31381351-31425437	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1231	chr14:31424602-31444721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
3	chr14:31360200-31435600	Weak transcription	Gastric	stomach
4	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
5	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
6	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
7	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
8	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
10	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
11	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:31395000-31435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:31395000-31435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:31396600-31429600	Weak transcription	Brain Substantia Nigra	brain
15	chr14:31398400-31426200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:31400200-31425600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:31408000-31425800	Strong transcription	Dnd41	blood
18	chr14:31410000-31425600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:31410000-31425600	Strong transcription	Fetal Intestine Large	intestine
20	chr14:31410200-31425600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:31410200-31425800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr14:31410600-31435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:31411200-31425600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:31411600-31425800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:31411800-31425600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:31412400-31425600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:31413200-31425600	Strong transcription	HepG2	liver
28	chr14:31413400-31435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr14:31414800-31434200	Weak transcription	Fetal Kidney	kidney
30	chr14:31415000-31437200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:31415400-31426000	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:31415800-31428000	Weak transcription	Brain Germinal Matrix	brain
33	chr14:31415800-31429200	Weak transcription	Lung	lung
34	chr14:31415800-31435200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:31416000-31428200	Weak transcription	Pancreas	Pancrea
36	chr14:31416000-31429200	Weak transcription	Brain Anterior Caudate	brain
37	chr14:31416000-31433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:31416000-31435200	Weak transcription	Spleen	Spleen
39	chr14:31416000-31435400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:31416000-31435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:31416000-31435600	Weak transcription	NHLF	lung
42	chr14:31416200-31433600	Weak transcription	Fetal Brain Female	brain
43	chr14:31416200-31434000	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:31416200-31435600	Weak transcription	Thymus	Thymus
45	chr14:31416600-31427200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:31416600-31435600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:31416600-31435800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:31416800-31433200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:31417000-31435200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:31417000-31435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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